KDSR (3-ketodihydrosphingosine reductase)

Gene

• Entrez ID: 2531
• Gene name: 3-ketodihydrosphingosine reductase
• Gene symbol: KDSR
• Synonyms (NCBI Gene): DHSR, EKVP4, FVT1, SDR35C1
• Chromosome: 18
• Chromosome location: 18q21.33
• Summary: The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearr

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs752611378	C>T	Pathogenic	Synonymous variant, intron variant, coding sequence variant
rs1114167450	CTT>-	Pathogenic	5 prime UTR variant, inframe indel, coding sequence variant
rs1114167451	T>G	Pathogenic	Splice acceptor variant
rs1114167452	T>A	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019765	hsa-miR-375	Microarray	20215506
MIRT022479	hsa-miR-124-3p	Microarray	18668037
MIRT031566	hsa-miR-16-5p	Proteomics	18668040
MIRT049650	hsa-miR-92a-3p	CLASH	23622248
MIRT042461	hsa-miR-423-3p	CLASH	23622248
MIRT687788	hsa-miR-193a-3p	HITS-CLIP	23313552
MIRT687787	hsa-miR-193b-3p	HITS-CLIP	23313552
MIRT687786	hsa-miR-892b	HITS-CLIP	23313552
MIRT687785	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT687784	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT687783	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT687782	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT676616	hsa-miR-4324	HITS-CLIP	23824327
MIRT676615	hsa-miR-544b	HITS-CLIP	23824327
MIRT676614	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT676613	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT676612	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT676611	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676610	hsa-miR-1976	HITS-CLIP	23824327
MIRT676609	hsa-miR-6789-3p	HITS-CLIP	23824327
MIRT676608	hsa-miR-566	HITS-CLIP	23824327
MIRT676607	hsa-miR-1200	HITS-CLIP	23824327
MIRT676606	hsa-miR-4279	HITS-CLIP	23824327
MIRT676605	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT676616	hsa-miR-4324	HITS-CLIP	23824327
MIRT676615	hsa-miR-544b	HITS-CLIP	23824327
MIRT676614	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT676613	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT676612	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT676611	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676610	hsa-miR-1976	HITS-CLIP	23824327
MIRT676609	hsa-miR-6789-3p	HITS-CLIP	23824327
MIRT676608	hsa-miR-566	HITS-CLIP	23824327
MIRT676607	hsa-miR-1200	HITS-CLIP	23824327
MIRT676606	hsa-miR-4279	HITS-CLIP	23824327
MIRT676605	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT676604	hsa-miR-498	HITS-CLIP	23824327
MIRT656971	hsa-miR-34a-3p	HITS-CLIP	23824327
MIRT656970	hsa-miR-205-3p	HITS-CLIP	23824327
MIRT656969	hsa-miR-8063	HITS-CLIP	23824327
MIRT656968	hsa-miR-4698	HITS-CLIP	23824327
MIRT656967	hsa-miR-607	HITS-CLIP	23824327
MIRT676607	hsa-miR-1200	PAR-CLIP	27292025
MIRT676610	hsa-miR-1976	PAR-CLIP	27292025
MIRT676611	hsa-miR-3653-5p	PAR-CLIP	27292025
MIRT676606	hsa-miR-4279	PAR-CLIP	27292025
MIRT676616	hsa-miR-4324	PAR-CLIP	27292025
MIRT676614	hsa-miR-4722-3p	PAR-CLIP	27292025
MIRT676604	hsa-miR-498	PAR-CLIP	27292025
MIRT676615	hsa-miR-544b	PAR-CLIP	27292025
MIRT676613	hsa-miR-6727-3p	PAR-CLIP	27292025
MIRT676612	hsa-miR-6747-3p	PAR-CLIP	27292025
MIRT676605	hsa-miR-6869-5p	PAR-CLIP	27292025
MIRT687788	hsa-miR-193a-3p	HITS-CLIP	23313552
MIRT687787	hsa-miR-193b-3p	HITS-CLIP	23313552
MIRT687786	hsa-miR-892b	HITS-CLIP	23313552
MIRT687785	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT687784	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT687783	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT687782	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT676616	hsa-miR-4324	HITS-CLIP	23824327
MIRT676615	hsa-miR-544b	HITS-CLIP	23824327
MIRT676614	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT676613	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT676612	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT676611	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676610	hsa-miR-1976	HITS-CLIP	23824327
MIRT676609	hsa-miR-6789-3p	HITS-CLIP	23824327
MIRT676608	hsa-miR-566	HITS-CLIP	23824327
MIRT676607	hsa-miR-1200	HITS-CLIP	23824327
MIRT676606	hsa-miR-4279	HITS-CLIP	23824327
MIRT676605	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT676616	hsa-miR-4324	HITS-CLIP	23824327
MIRT676615	hsa-miR-544b	HITS-CLIP	23824327
MIRT676614	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT676613	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT676612	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT676611	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676610	hsa-miR-1976	HITS-CLIP	23824327
MIRT676609	hsa-miR-6789-3p	HITS-CLIP	23824327
MIRT676608	hsa-miR-566	HITS-CLIP	23824327
MIRT676607	hsa-miR-1200	HITS-CLIP	23824327
MIRT676606	hsa-miR-4279	HITS-CLIP	23824327
MIRT676605	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT676604	hsa-miR-498	HITS-CLIP	23824327
MIRT656971	hsa-miR-34a-3p	HITS-CLIP	23824327
MIRT656970	hsa-miR-205-3p	HITS-CLIP	23824327
MIRT656969	hsa-miR-8063	HITS-CLIP	23824327
MIRT656968	hsa-miR-4698	HITS-CLIP	23824327
MIRT656967	hsa-miR-607	HITS-CLIP	23824327
MIRT1085038	hsa-miR-122	CLIP-seq
MIRT1085039	hsa-miR-1229	CLIP-seq
MIRT1085040	hsa-miR-1299	CLIP-seq
MIRT1085041	hsa-miR-1305	CLIP-seq
MIRT1085042	hsa-miR-132	CLIP-seq
MIRT1085043	hsa-miR-1343	CLIP-seq
MIRT1085044	hsa-miR-15a	CLIP-seq
MIRT1085045	hsa-miR-15b	CLIP-seq
MIRT1085046	hsa-miR-16	CLIP-seq
MIRT1085047	hsa-miR-195	CLIP-seq
MIRT1085048	hsa-miR-197	CLIP-seq
MIRT1085049	hsa-miR-199a-3p	CLIP-seq
MIRT1085050	hsa-miR-199b-3p	CLIP-seq
MIRT1085051	hsa-miR-2116	CLIP-seq
MIRT1085052	hsa-miR-212	CLIP-seq
MIRT1085053	hsa-miR-2355-5p	CLIP-seq
MIRT1085054	hsa-miR-24	CLIP-seq
MIRT1085055	hsa-miR-2681	CLIP-seq
MIRT1085056	hsa-miR-300	CLIP-seq
MIRT1085057	hsa-miR-3064-3p	CLIP-seq
MIRT1085058	hsa-miR-3120-3p	CLIP-seq
MIRT1085059	hsa-miR-3129-5p	CLIP-seq
MIRT1085060	hsa-miR-3135b	CLIP-seq
MIRT1085061	hsa-miR-3140-5p	CLIP-seq
MIRT1085062	hsa-miR-3149	CLIP-seq
MIRT1085063	hsa-miR-3187-3p	CLIP-seq
MIRT1085064	hsa-miR-335	CLIP-seq
MIRT1085065	hsa-miR-3613-3p	CLIP-seq
MIRT1085066	hsa-miR-3646	CLIP-seq
MIRT1085067	hsa-miR-3647-3p	CLIP-seq
MIRT1085068	hsa-miR-3652	CLIP-seq
MIRT1085069	hsa-miR-3653	CLIP-seq
MIRT1085070	hsa-miR-3662	CLIP-seq
MIRT1085071	hsa-miR-3663-5p	CLIP-seq
MIRT1085072	hsa-miR-3671	CLIP-seq
MIRT1085073	hsa-miR-381	CLIP-seq
MIRT1085074	hsa-miR-3925-5p	CLIP-seq
MIRT1085075	hsa-miR-3929	CLIP-seq
MIRT1085076	hsa-miR-3936	CLIP-seq
MIRT1085077	hsa-miR-3978	CLIP-seq
MIRT1085078	hsa-miR-424	CLIP-seq
MIRT1085079	hsa-miR-4257	CLIP-seq
MIRT1085080	hsa-miR-4275	CLIP-seq
MIRT1085081	hsa-miR-4284	CLIP-seq
MIRT1085082	hsa-miR-4311	CLIP-seq
MIRT1085083	hsa-miR-4419b	CLIP-seq
MIRT1085084	hsa-miR-4421	CLIP-seq
MIRT1085085	hsa-miR-4430	CLIP-seq
MIRT1085086	hsa-miR-4435	CLIP-seq
MIRT1085087	hsa-miR-4478	CLIP-seq
MIRT1085088	hsa-miR-4666-3p	CLIP-seq
MIRT1085089	hsa-miR-4677-5p	CLIP-seq
MIRT1085090	hsa-miR-4701-5p	CLIP-seq
MIRT1085091	hsa-miR-4709-3p	CLIP-seq
MIRT1085092	hsa-miR-4716-5p	CLIP-seq
MIRT1085093	hsa-miR-4727-5p	CLIP-seq
MIRT1085094	hsa-miR-4740-3p	CLIP-seq
MIRT1085095	hsa-miR-4755-3p	CLIP-seq
MIRT1085096	hsa-miR-4760-3p	CLIP-seq
MIRT1085097	hsa-miR-4760-5p	CLIP-seq
MIRT1085098	hsa-miR-4769-3p	CLIP-seq
MIRT1085099	hsa-miR-4772-3p	CLIP-seq
MIRT1085100	hsa-miR-4778-3p	CLIP-seq
MIRT1085101	hsa-miR-4781-3p	CLIP-seq
MIRT1085102	hsa-miR-4782-5p	CLIP-seq
MIRT1085103	hsa-miR-4796-5p	CLIP-seq
MIRT1085104	hsa-miR-483-5p	CLIP-seq
MIRT1085105	hsa-miR-497	CLIP-seq
MIRT1085106	hsa-miR-5096	CLIP-seq
MIRT1085107	hsa-miR-516b	CLIP-seq
MIRT1085108	hsa-miR-520d-5p	CLIP-seq
MIRT1085109	hsa-miR-524-5p	CLIP-seq
MIRT1085110	hsa-miR-539	CLIP-seq
MIRT1085111	hsa-miR-548ae	CLIP-seq
MIRT1085112	hsa-miR-548aj	CLIP-seq
MIRT1085113	hsa-miR-548am	CLIP-seq
MIRT1085114	hsa-miR-548s	CLIP-seq
MIRT1085115	hsa-miR-548x	CLIP-seq
MIRT1085116	hsa-miR-555	CLIP-seq
MIRT1085117	hsa-miR-570	CLIP-seq
MIRT1085118	hsa-miR-579	CLIP-seq
MIRT1085119	hsa-miR-588	CLIP-seq
MIRT1085120	hsa-miR-589	CLIP-seq
MIRT1085121	hsa-miR-595	CLIP-seq
MIRT1085122	hsa-miR-645	CLIP-seq
MIRT1085123	hsa-miR-875-3p	CLIP-seq
MIRT1085124	hsa-miR-936	CLIP-seq
MIRT1085125	hsa-miR-944	CLIP-seq
MIRT1085108	hsa-miR-520d-5p	CLIP-seq
MIRT1085109	hsa-miR-524-5p	CLIP-seq
MIRT2021646	hsa-miR-106a	CLIP-seq
MIRT2021647	hsa-miR-106b	CLIP-seq
MIRT1085038	hsa-miR-122	CLIP-seq
MIRT2021648	hsa-miR-1269	CLIP-seq
MIRT2021649	hsa-miR-1269b	CLIP-seq
MIRT2021650	hsa-miR-150	CLIP-seq
MIRT2021651	hsa-miR-17	CLIP-seq
MIRT2021652	hsa-miR-193b	CLIP-seq
MIRT1085048	hsa-miR-197	CLIP-seq
MIRT1085049	hsa-miR-199a-3p	CLIP-seq
MIRT1085050	hsa-miR-199b-3p	CLIP-seq
MIRT2021653	hsa-miR-200b	CLIP-seq
MIRT2021654	hsa-miR-200c	CLIP-seq
MIRT2021655	hsa-miR-20a	CLIP-seq
MIRT2021656	hsa-miR-20b	CLIP-seq
MIRT1085054	hsa-miR-24	CLIP-seq
MIRT2021657	hsa-miR-28-3p	CLIP-seq
MIRT2021658	hsa-miR-302a	CLIP-seq
MIRT2021659	hsa-miR-302b	CLIP-seq
MIRT2021660	hsa-miR-302c	CLIP-seq
MIRT2021661	hsa-miR-302d	CLIP-seq
MIRT2021662	hsa-miR-302e	CLIP-seq
MIRT1085059	hsa-miR-3129-5p	CLIP-seq
MIRT1085060	hsa-miR-3135b	CLIP-seq
MIRT1085062	hsa-miR-3149	CLIP-seq
MIRT2021663	hsa-miR-3170	CLIP-seq
MIRT1085063	hsa-miR-3187-3p	CLIP-seq
MIRT1085065	hsa-miR-3613-3p	CLIP-seq
MIRT1085068	hsa-miR-3652	CLIP-seq
MIRT1085071	hsa-miR-3663-5p	CLIP-seq
MIRT2021664	hsa-miR-3689d	CLIP-seq
MIRT2021665	hsa-miR-369-3p	CLIP-seq
MIRT2021666	hsa-miR-372	CLIP-seq
MIRT2021667	hsa-miR-373	CLIP-seq
MIRT1085075	hsa-miR-3929	CLIP-seq
MIRT2021668	hsa-miR-4260	CLIP-seq
MIRT1085081	hsa-miR-4284	CLIP-seq
MIRT2021669	hsa-miR-429	CLIP-seq
MIRT1085082	hsa-miR-4311	CLIP-seq
MIRT2021670	hsa-miR-432	CLIP-seq
MIRT1085083	hsa-miR-4419b	CLIP-seq
MIRT1085084	hsa-miR-4421	CLIP-seq
MIRT1085085	hsa-miR-4430	CLIP-seq
MIRT2021671	hsa-miR-4433	CLIP-seq
MIRT1085086	hsa-miR-4435	CLIP-seq
MIRT2021672	hsa-miR-4459	CLIP-seq
MIRT1085087	hsa-miR-4478	CLIP-seq
MIRT2021673	hsa-miR-4529-3p	CLIP-seq
MIRT1085090	hsa-miR-4701-5p	CLIP-seq
MIRT1085092	hsa-miR-4716-5p	CLIP-seq
MIRT2021674	hsa-miR-4731-5p	CLIP-seq
MIRT1085095	hsa-miR-4755-3p	CLIP-seq
MIRT2021675	hsa-miR-4768-3p	CLIP-seq
MIRT1085099	hsa-miR-4772-3p	CLIP-seq
MIRT2021676	hsa-miR-4775	CLIP-seq
MIRT1085101	hsa-miR-4781-3p	CLIP-seq
MIRT1085104	hsa-miR-483-5p	CLIP-seq
MIRT1085106	hsa-miR-5096	CLIP-seq
MIRT2021677	hsa-miR-512-3p	CLIP-seq
MIRT2021678	hsa-miR-519d	CLIP-seq
MIRT2021679	hsa-miR-520a-3p	CLIP-seq
MIRT2021680	hsa-miR-520b	CLIP-seq
MIRT2021681	hsa-miR-520c-3p	CLIP-seq
MIRT2021682	hsa-miR-520d-3p	CLIP-seq
MIRT2021683	hsa-miR-520e	CLIP-seq
MIRT2021684	hsa-miR-520g	CLIP-seq
MIRT2021685	hsa-miR-520h	CLIP-seq
MIRT1085111	hsa-miR-548ae	CLIP-seq
MIRT1085112	hsa-miR-548aj	CLIP-seq
MIRT1085113	hsa-miR-548am	CLIP-seq
MIRT1085114	hsa-miR-548s	CLIP-seq
MIRT1085115	hsa-miR-548x	CLIP-seq
MIRT2021686	hsa-miR-576-5p	CLIP-seq
MIRT2021687	hsa-miR-578	CLIP-seq
MIRT1085119	hsa-miR-588	CLIP-seq
MIRT2021688	hsa-miR-590-3p	CLIP-seq
MIRT1085122	hsa-miR-645	CLIP-seq
MIRT2021689	hsa-miR-9	CLIP-seq
MIRT2021690	hsa-miR-93	CLIP-seq
MIRT1085124	hsa-miR-936	CLIP-seq
MIRT1085038	hsa-miR-122	CLIP-seq
MIRT2253156	hsa-miR-1226	CLIP-seq
MIRT2253157	hsa-miR-1243	CLIP-seq
MIRT2253158	hsa-miR-1273e	CLIP-seq
MIRT2253159	hsa-miR-1279	CLIP-seq
MIRT2253160	hsa-miR-1297	CLIP-seq
MIRT2253161	hsa-miR-1301	CLIP-seq
MIRT1085042	hsa-miR-132	CLIP-seq
MIRT1085043	hsa-miR-1343	CLIP-seq
MIRT1085044	hsa-miR-15a	CLIP-seq
MIRT1085045	hsa-miR-15b	CLIP-seq
MIRT1085046	hsa-miR-16	CLIP-seq
MIRT2253162	hsa-miR-181a	CLIP-seq
MIRT2253163	hsa-miR-181b	CLIP-seq
MIRT2253164	hsa-miR-181c	CLIP-seq
MIRT2253165	hsa-miR-181d	CLIP-seq
MIRT2021652	hsa-miR-193b	CLIP-seq
MIRT1085047	hsa-miR-195	CLIP-seq
MIRT1085048	hsa-miR-197	CLIP-seq
MIRT1085049	hsa-miR-199a-3p	CLIP-seq
MIRT1085050	hsa-miR-199b-3p	CLIP-seq
MIRT2021653	hsa-miR-200b	CLIP-seq
MIRT2021654	hsa-miR-200c	CLIP-seq
MIRT1085052	hsa-miR-212	CLIP-seq
MIRT2253166	hsa-miR-221	CLIP-seq
MIRT2253167	hsa-miR-222	CLIP-seq
MIRT2253168	hsa-miR-223	CLIP-seq
MIRT1085054	hsa-miR-24	CLIP-seq
MIRT1085055	hsa-miR-2681	CLIP-seq
MIRT2253169	hsa-miR-26a	CLIP-seq
MIRT2253170	hsa-miR-26b	CLIP-seq
MIRT1085058	hsa-miR-3120-3p	CLIP-seq
MIRT1085059	hsa-miR-3129-5p	CLIP-seq
MIRT1085060	hsa-miR-3135b	CLIP-seq
MIRT1085061	hsa-miR-3140-5p	CLIP-seq
MIRT1085062	hsa-miR-3149	CLIP-seq
MIRT2253171	hsa-miR-3174	CLIP-seq
MIRT1085063	hsa-miR-3187-3p	CLIP-seq
MIRT1085065	hsa-miR-3613-3p	CLIP-seq
MIRT1085068	hsa-miR-3652	CLIP-seq
MIRT1085069	hsa-miR-3653	CLIP-seq
MIRT2253172	hsa-miR-3654	CLIP-seq
MIRT2253173	hsa-miR-3663-3p	CLIP-seq
MIRT1085071	hsa-miR-3663-5p	CLIP-seq
MIRT1085072	hsa-miR-3671	CLIP-seq
MIRT2253174	hsa-miR-3685	CLIP-seq
MIRT2021664	hsa-miR-3689d	CLIP-seq
MIRT2253175	hsa-miR-3907	CLIP-seq
MIRT2253176	hsa-miR-3926	CLIP-seq
MIRT1085075	hsa-miR-3929	CLIP-seq
MIRT1085076	hsa-miR-3936	CLIP-seq
MIRT2253177	hsa-miR-3943	CLIP-seq
MIRT1085077	hsa-miR-3978	CLIP-seq
MIRT2253178	hsa-miR-421	CLIP-seq
MIRT1085078	hsa-miR-424	CLIP-seq
MIRT1085079	hsa-miR-4257	CLIP-seq
MIRT2253179	hsa-miR-4261	CLIP-seq
MIRT2253180	hsa-miR-4262	CLIP-seq
MIRT2253181	hsa-miR-4276	CLIP-seq
MIRT2253182	hsa-miR-4277	CLIP-seq
MIRT2253183	hsa-miR-4283	CLIP-seq
MIRT1085081	hsa-miR-4284	CLIP-seq
MIRT2021669	hsa-miR-429	CLIP-seq
MIRT2253184	hsa-miR-4323	CLIP-seq
MIRT2253185	hsa-miR-4327	CLIP-seq
MIRT1085083	hsa-miR-4419b	CLIP-seq
MIRT1085085	hsa-miR-4430	CLIP-seq
MIRT2021671	hsa-miR-4433	CLIP-seq
MIRT1085086	hsa-miR-4435	CLIP-seq
MIRT2253186	hsa-miR-4446-3p	CLIP-seq
MIRT2021672	hsa-miR-4459	CLIP-seq
MIRT2253187	hsa-miR-4465	CLIP-seq
MIRT1085087	hsa-miR-4478	CLIP-seq
MIRT2253188	hsa-miR-450b-3p	CLIP-seq
MIRT2253189	hsa-miR-4524	CLIP-seq
MIRT2253190	hsa-miR-4530	CLIP-seq
MIRT2253191	hsa-miR-4668-3p	CLIP-seq
MIRT2253192	hsa-miR-4675	CLIP-seq
MIRT2253193	hsa-miR-4691-3p	CLIP-seq
MIRT2253194	hsa-miR-4697-3p	CLIP-seq
MIRT1085090	hsa-miR-4701-5p	CLIP-seq
MIRT1085091	hsa-miR-4709-3p	CLIP-seq
MIRT2253195	hsa-miR-4709-5p	CLIP-seq
MIRT1085092	hsa-miR-4716-5p	CLIP-seq
MIRT2253196	hsa-miR-4717-5p	CLIP-seq
MIRT2253197	hsa-miR-4735-5p	CLIP-seq
MIRT2253198	hsa-miR-4741	CLIP-seq
MIRT1085095	hsa-miR-4755-3p	CLIP-seq
MIRT2021675	hsa-miR-4768-3p	CLIP-seq
MIRT1085099	hsa-miR-4772-3p	CLIP-seq
MIRT2021676	hsa-miR-4775	CLIP-seq
MIRT1085100	hsa-miR-4778-3p	CLIP-seq
MIRT1085101	hsa-miR-4781-3p	CLIP-seq
MIRT1085103	hsa-miR-4796-5p	CLIP-seq
MIRT1085104	hsa-miR-483-5p	CLIP-seq
MIRT1085105	hsa-miR-497	CLIP-seq
MIRT2253199	hsa-miR-503	CLIP-seq
MIRT2253200	hsa-miR-5047	CLIP-seq
MIRT1085106	hsa-miR-5096	CLIP-seq
MIRT2253201	hsa-miR-511	CLIP-seq
MIRT2253202	hsa-miR-513a-3p	CLIP-seq
MIRT1085111	hsa-miR-548ae	CLIP-seq
MIRT1085112	hsa-miR-548aj	CLIP-seq
MIRT1085113	hsa-miR-548am	CLIP-seq
MIRT2253203	hsa-miR-548p	CLIP-seq
MIRT1085114	hsa-miR-548s	CLIP-seq
MIRT1085115	hsa-miR-548x	CLIP-seq
MIRT2253204	hsa-miR-552	CLIP-seq
MIRT1085116	hsa-miR-555	CLIP-seq
MIRT1085117	hsa-miR-570	CLIP-seq
MIRT1085119	hsa-miR-588	CLIP-seq
MIRT2021688	hsa-miR-590-3p	CLIP-seq
MIRT1085121	hsa-miR-595	CLIP-seq
MIRT2253205	hsa-miR-626	CLIP-seq
MIRT2253206	hsa-miR-634	CLIP-seq
MIRT1085122	hsa-miR-645	CLIP-seq
MIRT2253207	hsa-miR-646	CLIP-seq
MIRT2253208	hsa-miR-759	CLIP-seq
MIRT2253209	hsa-miR-764	CLIP-seq
MIRT2253210	hsa-miR-769-3p	CLIP-seq
MIRT1085123	hsa-miR-875-3p	CLIP-seq
MIRT2253211	hsa-miR-922	CLIP-seq
MIRT1085124	hsa-miR-936	CLIP-seq
MIRT1085125	hsa-miR-944	CLIP-seq
MIRT1085044	hsa-miR-15a	CLIP-seq
MIRT1085045	hsa-miR-15b	CLIP-seq
MIRT1085046	hsa-miR-16	CLIP-seq
MIRT1085047	hsa-miR-195	CLIP-seq
MIRT1085072	hsa-miR-3671	CLIP-seq
MIRT1085078	hsa-miR-424	CLIP-seq
MIRT2389714	hsa-miR-4258	CLIP-seq
MIRT2253181	hsa-miR-4276	CLIP-seq
MIRT2253189	hsa-miR-4524	CLIP-seq
MIRT2389715	hsa-miR-4707-3p	CLIP-seq
MIRT1085105	hsa-miR-497	CLIP-seq
MIRT2253199	hsa-miR-503	CLIP-seq
MIRT2253203	hsa-miR-548p	CLIP-seq
MIRT2253207	hsa-miR-646	CLIP-seq
MIRT1085044	hsa-miR-15a	CLIP-seq
MIRT1085045	hsa-miR-15b	CLIP-seq
MIRT1085046	hsa-miR-16	CLIP-seq
MIRT1085047	hsa-miR-195	CLIP-seq
MIRT1085072	hsa-miR-3671	CLIP-seq
MIRT2253176	hsa-miR-3926	CLIP-seq
MIRT1085078	hsa-miR-424	CLIP-seq
MIRT2253189	hsa-miR-4524	CLIP-seq
MIRT2253196	hsa-miR-4717-5p	CLIP-seq
MIRT1085103	hsa-miR-4796-5p	CLIP-seq
MIRT1085105	hsa-miR-497	CLIP-seq
MIRT2253199	hsa-miR-503	CLIP-seq
MIRT1085121	hsa-miR-595	CLIP-seq
MIRT2253207	hsa-miR-646	CLIP-seq
MIRT1085125	hsa-miR-944	CLIP-seq
MIRT1085043	hsa-miR-1343	CLIP-seq
MIRT2452345	hsa-miR-4509	CLIP-seq
MIRT2452346	hsa-miR-4744	CLIP-seq
MIRT2452347	hsa-miR-4799-5p	CLIP-seq
MIRT2452348	hsa-miR-548a-5p	CLIP-seq
MIRT2452349	hsa-miR-548ab	CLIP-seq
MIRT2452350	hsa-miR-548ak	CLIP-seq
MIRT2452351	hsa-miR-548b-5p	CLIP-seq
MIRT2452352	hsa-miR-548c-5p	CLIP-seq
MIRT2452353	hsa-miR-548d-5p	CLIP-seq
MIRT2452354	hsa-miR-548h	CLIP-seq
MIRT2452355	hsa-miR-548i	CLIP-seq
MIRT2452356	hsa-miR-548j	CLIP-seq
MIRT2452357	hsa-miR-548k	CLIP-seq
MIRT2452358	hsa-miR-548l	CLIP-seq
MIRT2253203	hsa-miR-548p	CLIP-seq
MIRT2452359	hsa-miR-548w	CLIP-seq
MIRT2452360	hsa-miR-548y	CLIP-seq
MIRT2452361	hsa-miR-559	CLIP-seq
MIRT2452362	hsa-miR-562	CLIP-seq
MIRT1085043	hsa-miR-1343	CLIP-seq
MIRT2452345	hsa-miR-4509	CLIP-seq
MIRT2452346	hsa-miR-4744	CLIP-seq
MIRT2452347	hsa-miR-4799-5p	CLIP-seq
MIRT2452348	hsa-miR-548a-5p	CLIP-seq
MIRT2452349	hsa-miR-548ab	CLIP-seq
MIRT2452350	hsa-miR-548ak	CLIP-seq
MIRT2452351	hsa-miR-548b-5p	CLIP-seq
MIRT2452352	hsa-miR-548c-5p	CLIP-seq
MIRT2452353	hsa-miR-548d-5p	CLIP-seq
MIRT2452354	hsa-miR-548h	CLIP-seq
MIRT2452355	hsa-miR-548i	CLIP-seq
MIRT2452356	hsa-miR-548j	CLIP-seq
MIRT2452357	hsa-miR-548k	CLIP-seq
MIRT2452358	hsa-miR-548l	CLIP-seq
MIRT2253203	hsa-miR-548p	CLIP-seq
MIRT2452359	hsa-miR-548w	CLIP-seq
MIRT2452360	hsa-miR-548y	CLIP-seq
MIRT2452361	hsa-miR-559	CLIP-seq
MIRT2452362	hsa-miR-562	CLIP-seq
MIRT1085038	hsa-miR-122	CLIP-seq
MIRT2253157	hsa-miR-1243	CLIP-seq
MIRT2555990	hsa-miR-1247	CLIP-seq
MIRT1085043	hsa-miR-1343	CLIP-seq
MIRT2555991	hsa-miR-198	CLIP-seq
MIRT1085049	hsa-miR-199a-3p	CLIP-seq
MIRT1085050	hsa-miR-199b-3p	CLIP-seq
MIRT1085054	hsa-miR-24	CLIP-seq
MIRT2555992	hsa-miR-25	CLIP-seq
MIRT1085059	hsa-miR-3129-5p	CLIP-seq
MIRT1085060	hsa-miR-3135b	CLIP-seq
MIRT2555993	hsa-miR-3140-3p	CLIP-seq
MIRT2555994	hsa-miR-3148	CLIP-seq
MIRT1085062	hsa-miR-3149	CLIP-seq
MIRT2555995	hsa-miR-32	CLIP-seq
MIRT2555996	hsa-miR-363	CLIP-seq
MIRT1085068	hsa-miR-3652	CLIP-seq
MIRT2253172	hsa-miR-3654	CLIP-seq
MIRT2555997	hsa-miR-367	CLIP-seq
MIRT2555998	hsa-miR-3675-3p	CLIP-seq
MIRT2555999	hsa-miR-3682-5p	CLIP-seq
MIRT2253174	hsa-miR-3685	CLIP-seq
MIRT2556000	hsa-miR-384	CLIP-seq
MIRT1085075	hsa-miR-3929	CLIP-seq
MIRT2556001	hsa-miR-4267	CLIP-seq
MIRT1085081	hsa-miR-4284	CLIP-seq
MIRT2556002	hsa-miR-4290	CLIP-seq
MIRT2556003	hsa-miR-4325	CLIP-seq
MIRT1085083	hsa-miR-4419b	CLIP-seq
MIRT2556004	hsa-miR-4422	CLIP-seq
MIRT1085085	hsa-miR-4430	CLIP-seq
MIRT1085087	hsa-miR-4478	CLIP-seq
MIRT2452345	hsa-miR-4509	CLIP-seq
MIRT2556005	hsa-miR-4655-3p	CLIP-seq
MIRT2556006	hsa-miR-4715-3p	CLIP-seq
MIRT2253197	hsa-miR-4735-5p	CLIP-seq
MIRT2452346	hsa-miR-4744	CLIP-seq
MIRT2556007	hsa-miR-4753-3p	CLIP-seq
MIRT1085099	hsa-miR-4772-3p	CLIP-seq
MIRT2021676	hsa-miR-4775	CLIP-seq
MIRT2452347	hsa-miR-4799-5p	CLIP-seq
MIRT2452348	hsa-miR-548a-5p	CLIP-seq
MIRT2452349	hsa-miR-548ab	CLIP-seq
MIRT2452350	hsa-miR-548ak	CLIP-seq
MIRT2452351	hsa-miR-548b-5p	CLIP-seq
MIRT2452352	hsa-miR-548c-5p	CLIP-seq
MIRT2452353	hsa-miR-548d-5p	CLIP-seq
MIRT2452354	hsa-miR-548h	CLIP-seq
MIRT2452355	hsa-miR-548i	CLIP-seq
MIRT2452356	hsa-miR-548j	CLIP-seq
MIRT2452357	hsa-miR-548k	CLIP-seq
MIRT2452358	hsa-miR-548l	CLIP-seq
MIRT2253203	hsa-miR-548p	CLIP-seq
MIRT2556008	hsa-miR-548u	CLIP-seq
MIRT2452359	hsa-miR-548w	CLIP-seq
MIRT2452360	hsa-miR-548y	CLIP-seq
MIRT2452361	hsa-miR-559	CLIP-seq
MIRT2452362	hsa-miR-562	CLIP-seq
MIRT2556009	hsa-miR-577	CLIP-seq
MIRT2021688	hsa-miR-590-3p	CLIP-seq
MIRT2556010	hsa-miR-627	CLIP-seq
MIRT1085122	hsa-miR-645	CLIP-seq
MIRT1085123	hsa-miR-875-3p	CLIP-seq
MIRT2556011	hsa-miR-924	CLIP-seq
MIRT2556012	hsa-miR-92a	CLIP-seq
MIRT2556013	hsa-miR-92b	CLIP-seq
MIRT1085124	hsa-miR-936	CLIP-seq
MIRT1085038	hsa-miR-122	CLIP-seq
MIRT2253157	hsa-miR-1243	CLIP-seq
MIRT2555990	hsa-miR-1247	CLIP-seq
MIRT1085043	hsa-miR-1343	CLIP-seq
MIRT1085048	hsa-miR-197	CLIP-seq
MIRT2555991	hsa-miR-198	CLIP-seq
MIRT1085049	hsa-miR-199a-3p	CLIP-seq
MIRT1085050	hsa-miR-199b-3p	CLIP-seq
MIRT1085054	hsa-miR-24	CLIP-seq
MIRT2555992	hsa-miR-25	CLIP-seq
MIRT2683279	hsa-miR-3115	CLIP-seq
MIRT1085059	hsa-miR-3129-5p	CLIP-seq
MIRT1085060	hsa-miR-3135b	CLIP-seq
MIRT2555993	hsa-miR-3140-3p	CLIP-seq
MIRT2555994	hsa-miR-3148	CLIP-seq
MIRT1085062	hsa-miR-3149	CLIP-seq
MIRT1085063	hsa-miR-3187-3p	CLIP-seq
MIRT2555995	hsa-miR-32	CLIP-seq
MIRT2555996	hsa-miR-363	CLIP-seq
MIRT1085068	hsa-miR-3652	CLIP-seq
MIRT2253172	hsa-miR-3654	CLIP-seq
MIRT1085071	hsa-miR-3663-5p	CLIP-seq
MIRT2555997	hsa-miR-367	CLIP-seq
MIRT2555998	hsa-miR-3675-3p	CLIP-seq
MIRT2555999	hsa-miR-3682-5p	CLIP-seq
MIRT2253174	hsa-miR-3685	CLIP-seq
MIRT2556000	hsa-miR-384	CLIP-seq
MIRT1085075	hsa-miR-3929	CLIP-seq
MIRT2556001	hsa-miR-4267	CLIP-seq
MIRT1085081	hsa-miR-4284	CLIP-seq
MIRT2556002	hsa-miR-4290	CLIP-seq
MIRT2556003	hsa-miR-4325	CLIP-seq
MIRT1085083	hsa-miR-4419b	CLIP-seq
MIRT2556004	hsa-miR-4422	CLIP-seq
MIRT1085085	hsa-miR-4430	CLIP-seq
MIRT1085086	hsa-miR-4435	CLIP-seq
MIRT1085087	hsa-miR-4478	CLIP-seq
MIRT2452345	hsa-miR-4509	CLIP-seq
MIRT2556005	hsa-miR-4655-3p	CLIP-seq
MIRT1085090	hsa-miR-4701-5p	CLIP-seq
MIRT2556006	hsa-miR-4715-3p	CLIP-seq
MIRT1085092	hsa-miR-4716-5p	CLIP-seq
MIRT2253197	hsa-miR-4735-5p	CLIP-seq
MIRT2452346	hsa-miR-4744	CLIP-seq
MIRT2556007	hsa-miR-4753-3p	CLIP-seq
MIRT1085095	hsa-miR-4755-3p	CLIP-seq
MIRT1085099	hsa-miR-4772-3p	CLIP-seq
MIRT2021676	hsa-miR-4775	CLIP-seq
MIRT1085101	hsa-miR-4781-3p	CLIP-seq
MIRT2452347	hsa-miR-4799-5p	CLIP-seq
MIRT1085104	hsa-miR-483-5p	CLIP-seq
MIRT1085106	hsa-miR-5096	CLIP-seq
MIRT2452348	hsa-miR-548a-5p	CLIP-seq
MIRT2452349	hsa-miR-548ab	CLIP-seq
MIRT2452350	hsa-miR-548ak	CLIP-seq
MIRT2452351	hsa-miR-548b-5p	CLIP-seq
MIRT2452352	hsa-miR-548c-5p	CLIP-seq
MIRT2452353	hsa-miR-548d-5p	CLIP-seq
MIRT2452354	hsa-miR-548h	CLIP-seq
MIRT2452355	hsa-miR-548i	CLIP-seq
MIRT2452356	hsa-miR-548j	CLIP-seq
MIRT2452357	hsa-miR-548k	CLIP-seq
MIRT2452358	hsa-miR-548l	CLIP-seq
MIRT2253203	hsa-miR-548p	CLIP-seq
MIRT1085114	hsa-miR-548s	CLIP-seq
MIRT2556008	hsa-miR-548u	CLIP-seq
MIRT2452359	hsa-miR-548w	CLIP-seq
MIRT2452360	hsa-miR-548y	CLIP-seq
MIRT2452361	hsa-miR-559	CLIP-seq
MIRT2452362	hsa-miR-562	CLIP-seq
MIRT1085119	hsa-miR-588	CLIP-seq
MIRT2021688	hsa-miR-590-3p	CLIP-seq
MIRT2556010	hsa-miR-627	CLIP-seq
MIRT1085122	hsa-miR-645	CLIP-seq
MIRT1085123	hsa-miR-875-3p	CLIP-seq
MIRT2556011	hsa-miR-924	CLIP-seq
MIRT2556012	hsa-miR-92a	CLIP-seq
MIRT2556013	hsa-miR-92b	CLIP-seq
MIRT1085124	hsa-miR-936	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005615	Component	Extracellular space	TAS	8417785
GO:0005783	Component	Endoplasmic reticulum	IDA	15364918
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0006666	Process	3-keto-sphinganine metabolic process	IBA
GO:0006666	Process	3-keto-sphinganine metabolic process	IDA	15364918
GO:0006666	Process	3-keto-sphinganine metabolic process	IEA
GO:0006666	Process	3-keto-sphinganine metabolic process	IMP	19141869
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	IBA
GO:0030148	Process	Sphingolipid biosynthetic process	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	IMP	19141869
GO:0030148	Process	Sphingolipid biosynthetic process	ISS
GO:0030148	Process	Sphingolipid biosynthetic process	TAS
GO:0047560	Function	3-dehydrosphinganine reductase activity	IBA
GO:0047560	Function	3-dehydrosphinganine reductase activity	IDA	15364918
GO:0047560	Function	3-dehydrosphinganine reductase activity	IEA
GO:0047560	Function	3-dehydrosphinganine reductase activity	IMP	19141869, 28575652
GO:0047560	Function	3-dehydrosphinganine reductase activity	TAS
GO:0070402	Function	NADPH binding	ISS

Other IDs

• MIM: 136440
• HGNC: 4021
• e!Ensembl: ENSG00000119537

Protein

• UniProt ID: Q06136
• Protein name: 3-ketodihydrosphingosine reductase (KDS reductase) (EC 1.1.1.102) (3-dehydrosphinganine reductase) (Follicular variant translocation protein 1) (FVT-1) (Short chain dehydrogenase/reductase family 35C member 1)
• Protein function: Catalyzes the reduction of 3'-oxosphinganine (3-ketodihydrosphingosine/KDS) to sphinganine (dihydrosphingosine/DHS), the second step of de novo sphingolipid biosynthesis. {ECO:0000269|PubMed:19141869, ECO:0000269|PubMed:28575652, ECO:0000269|Pub
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00106	adh_short	33 → 232	short chain dehydrogenase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in all tissues examined. Highest expression in placenta. High expression in lung, kidney, stomach and small intestine, low expression in heart, spleen and skeletal muscle. Weakly expressed in normal hematopoietic tissues. Hig
• Sequence:

  MLLLAAAFLVAFVLLLYMVSPLISPKPLALPGAHVVVTGGSSGIGKCIAIECYKQGAFIT
  LVARNEDKLLQAKKEIEMHSINDKQVVLCISVDVSQDYNQVENVIKQAQEKLGPVDMLVN
  CAGMAVSGKFEDLEVSTFERLMSINYLGSVYPSRAVITTMKERRVGRIVFVSSQAGQLGL
  FGFTAYSASKFAIRGLAEALQMEVKPYNVYITVAYPPDTDTPGFAEENRTKPLETRLISE
  TTSVCKPEQVAKQIVKDAIQGNFNSSLGSDGYMLSALTCGMAPVTSITEGLQQVVTMGLF
  RTIALFYLGSFDSIVRRCMMQREKSENADKTA

• Sequence length: 332

Pathways

KEGG:

Sphingolipid metabolism
Metabolic pathways

Reactome:

Sphingolipid de novo biosynthesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Acute myeloid leukemia	Likely pathogenic	rs752611378	RCV005899742	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic	rs752611378	RCV005899743	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Erythrokeratodermia variabilis et progressiva 4	Likely pathogenic; Pathogenic	rs751571336, rs144669389, rs1114167450, rs1114167451, rs752611378, rs1114167452	RCV003314470 RCV003993629 RCV000490805 RCV000490807 RCV000490808 RCV000490806	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Likely pathogenic	rs752611378	RCV005899744	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ERYTHROKERATODERMIA VARIABILIS	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA, FOLLICULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	19019774		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	19019774		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	7949096		★☆☆☆☆ Found in Text Mining only
Bernard Soulier Syndrome	Bernard-soulier syndrome	Pubtator	28774589	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	GENOMICS_ENGLAND_DG	28575652		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31512789		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	30467204		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	19019774		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Erythrokeratoderma	Erythrokeratoderma	BEFREE	28575652, 28774589		★☆☆☆☆ Found in Text Mining only
Erythrokeratodermia variabilis	Erythrokeratodermia Variabilis	ORPHANET_DG	28575652		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrokeratodermia variabilis	Erythrokeratodermia Variabilis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrokeratodermia variabilis	Erythrokeratodermia Variabilis	BEFREE	30467204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4	Erythrokeratodermia Variabilis	UNIPROT_DG	28575652		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4	Erythrokeratodermia Variabilis	GENOMICS_ENGLAND_DG	28575652		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4	Erythrokeratodermia Variabilis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	19019774		★☆☆☆☆ Found in Text Mining only
Ichthyosis Lamellar	Lamellar ichthyosis	Pubtator	28774589	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	34373586	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	19019774, 8417785	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	LHGDN	19019774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Follicular	Lymphoma	CTD_human_DG	25526675		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Follicular	Lymphoma	BEFREE	8417785		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Follicular, Grade 1	Lymphoma	CTD_human_DG	25526675		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular, Grade 2	Lymphoma	CTD_human_DG	25526675		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular, Grade 3	Lymphoma	CTD_human_DG	25526675		★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	CTD_human_DG	25526675		★☆☆☆☆ Found in Text Mining only
Lymphoma, Mixed-Cell, Follicular	Lymphoma	CTD_human_DG	25526675		★☆☆☆☆ Found in Text Mining only
Lymphoma, Small Cleaved-Cell, Follicular	Lymphoma	CTD_human_DG	25526675		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	8417785		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patchy palmoplantar keratoderma	Patchy palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive symmetric erythrokeratodermia	Progressive Symmetric Erythrokeratodermia	Orphanet			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	LHGDN	17420465		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30718751		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	28774589	Associate	★☆☆☆☆ Found in Text Mining only